| | PCDHGA11, PCDHGA12 +20 more (K184fs) | Deletion (frameshift variant +1 more) | Neurodevelopmental disorder with poor growth and skeletal anomalies | |
| | PCDHG@, PCDHGA1 +17 more (V452G) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder | |
| | PCDHG@, PCDHGA1 +21 more (R222H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +21 more (T184I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +21 more (P174S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +21 more (N165H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +21 more (P160L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +21 more (R141P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +21 more (R118C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +21 more (V106A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +21 more (H573D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +20 more (G306W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHG@, PCDHGA1 +20 more (S231F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHG@, PCDHGA1 +20 more (P581T) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHG@, PCDHGA1 +20 more (L443F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHG@, PCDHGA1 +20 more (R439S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHG@, PCDHGA1 +20 more (V425F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | PCDHG@, PCDHGA1 +19 more (I320F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (S247Y) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (R187Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (N89S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (G9R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (E82K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (A806T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (S784R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (L695I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (T691A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (P683R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (S585P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +19 more (Q566R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +16 more (I319T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +16 more (L302V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +16 more (V211I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +21 more (N905S +14 more) | Single nucleotide variant (missense variant) | not specified | |
| | PCDHG@, PCDHGA1 +16 more (D799G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +16 more (N762D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +16 more (A712V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +16 more (L66R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +16 more (D634V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +16 more (V61A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +16 more (S488F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (R314G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (E31G) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (M291T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (D161V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (P160A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (H758L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (Y752C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (P741H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (I711V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (V68L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHGB2, PCDHGB3 +14 more (L542F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (V458L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +14 more (L432R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +12 more (Y279N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +12 more (E271D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +12 more (P27S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +12 more (I142T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +12 more (P648L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +12 more (A641S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +12 more (Y485F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +12 more (P412S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (I326T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (I315T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (V255M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (S243N) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (T130M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (G780S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (R712H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (A710V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (A708S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (P650S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (G648E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (L561Q) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (R547C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (S501C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (G480R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (D478E) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (S432A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +10 more (L408V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (A321V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (L307R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (T226A) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (E193D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (M16T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (L654F) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (R647C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (T628R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (Y606H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (E570K) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (P466R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +7 more (A409D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +5 more (D254H) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +5 more (S160L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +5 more (L66V) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHGB2, PCDHG@ +5 more (V608M) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +5 more (T364R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +13 more (R248L) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +13 more (A157T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | PCDHG@, PCDHGA1 +13 more (V123E) | Single nucleotide variant (missense variant +1 more) | not specified | |